MODY3 for the newly diagnosed

Receiving a MODY3 diagnosis can be a threatening, frightening time. However, by understanding the disease, and knowing what to do about it, you can live a long and healthy life. This booklet will explain what MODY3 is, and will outline some of the changes you will need to make.

Diabetes mellitus refers to a group of diseases that impact the pancreas and how the body stores and uses both glucose and insulin. Maturity onset diabetes of youth (or MODY) is a rare genetic form of diabetes.

There are three main groups of diseases that fall under the diabetes heading:

• Type 1 is an immunodeficiency disorder, where the pancreas no longer produces any insulin. People with type 1 diabetes require injections of insulin to stay healthy.
• Type 2 is a progressive disease, where the pancreas will gradually stop producing insulin in the quantities required. Additionally, people with type 2 diabetes will exhibit insulin resistance, where they  can no longer effectively use the insulin their pancreas produces.
• All other types. This includes latent autoimmune diabetes of adults (LADA), which is a form of late-onset type 1 diabetes; and maturity onset diabetes of youth (MODY), which is a genetic form of diabetes. These types are sometimes referred to as ‘type 1.5’.

Many people with MODY are never officially diagnosed, as it requires lengthy and expensive genetic testing, and even those results can be inconclusive. You might have been diagnosed as one of the other types of diabetes, and your progression has caused your doctor to suspect you have MODY, or you might have been diagnosed as MODY simply because you show none of the usual signs of type 1 or 2 diabetes. Do not worry too much about having an official diagnosis, though. Enough is known and understood about the management of diabetes—and MODY—to be able to manage your condition very well. Over time, you and your medical team will be able to determine with greater certainty what type of diabetes you have, and how best to treat it.

Despite the name, maturity onset diabetes of youth is not late-onset type 1 diabetes. MODY comes in six known forms, although this number could climb as research continues into the area. MODY is referred to as ‘monogenic’ meaning that it involves only one gene, unlike the more common forms of diabetes that have more complex causes, and involve two or more genes. The types of MODY are differentiated by the gene that is involved. About 2% of all diabetes diagnoses are MODY, and about 70% of all MODY diagnoses are of the type MODY3. MODY3 is caused by mutations of a gene on chromosome 12 called the HNF1α gene.

Generally, people with MODY3 produce a very small amount of insulin or none at all. However, if you have MODY3, you probably do not have very high insulin resistance. This means that that you can use any insulin your body produces or that you inject effectively.

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I wrote this manual as a final assessment item for uni. I have no intention of updating or maintaining the document at this stage, however if there is sufficient interest in it as an information resource, I could possibly be convinced ;)